Title : A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.

Pub. Date : 1999 Mar 30

PMID : 10097181






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The response of the mutant RyR1 Ca2+ channel to the agonists halothane and caffeine in a Ca2+ photometry assay was completely abolished. Halothane ryanodine receptor 1 Homo sapiens
2 Coexpression of normal and mutant RYR1 cDNAs in a 1:1 ratio, however, produced RyR1 channels with normal halothane and caffeine sensitivities, but maximal levels of Ca2+ release were reduced by 67%. Halothane ryanodine receptor 1 Homo sapiens